Population
Kindreds with hypertrophic cardiomyopathy and specific beta-myosin heavy chain gene mutations, including a…
Design
Cohort
Key result
The 256Gly-->Glu mutation had a cumulative sudden cardiac death rate of 2% at 50 years, whereas the 606Val-->Met mutation was malignant with 4 sudden cardiac deaths in 8 affected individuals.
Authors
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Variable SCD risks by specific HCM mutation support cautious, mutation-informed family counseling; leaves open generalizability and modifier effects in larger cohorts.
Observational
Genotype-phenotype correlations in hypertrophic cardiomyopathy demonstrate that identical mutations can have distinct clinical phenotypes depending on genetic background, and not all charge-changing mutations are malignant.
Fananapazir et al. (1994) conducted an observational in Hypertrophic cardiomyopathy. Beta-myosin heavy chain gene mutations was evaluated on Disease penetrance and sudden cardiac death. The 256Gly-->Glu mutation had a cumulative sudden cardiac death rate of 2% at 50 years, whereas the 606Val-->Met mutation was malignant with 4 sudden cardiac deaths in 8 affected individuals.